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ETV6-related thrombocytopenia: dominant negative effect of mutations as common pathogenic mechanism

, Faleschini Michela, Ammeti Daniele, Nicole Papa, Caterina Alfano, Bottega Roberta, FONTANA GIORGIA, Capaci Valeria, ZANCHETTA MELANIA EVA, Federico Pozzani, Francesca Montanari, Valeria Petroni, Paola Giordano, Patrizia Noris, Fiorina Giona, Savoia Anna, Savoia Anna

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Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

, Caterina Marconi, Alessandro Pecci, Flavia Palombo, Federica Melazzini, Bottega Roberta, Elena Nardi, Valeria Bozzi, Faleschini Michela, Serena Barozzi, Tania Giangregorio, Pamela Magini, Carlo L Balduini, Savoia Anna, Marco Seri, Patrizia Noris, Tommaso Pippucci